maple syrup urine disease type IA
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
branched-chain amino acid metabolism
|
| gptkbp:alsoKnownAs |
gptkb:MSUD_type_IA
|
| gptkbp:diagnosedBy |
newborn screening
urine amino acid analysis |
| gptkbp:firstDescribed |
1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
maple syrup urine disease type IA
|
| gptkbp:ICD-10_code |
E71.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:BCKDHA_gene
|
| gptkbp:OMIM |
248600
|
| gptkbp:symptom |
vomiting
lethargy developmental delay poor feeding sweet-smelling urine |
| gptkbp:treatment |
dietary management
liver transplantation thiamine supplementation |
| gptkbp:bfsParent |
gptkb:BCKDHA
|
| gptkbp:bfsLayer |
7
|